{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T17:10:23Z","timestamp":1776532223487,"version":"3.51.2"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,8,22]],"date-time":"2018-08-22T00:00:00Z","timestamp":1534896000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH078041"],"award-info":[{"award-number":["R01MH078041"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["2R01HD036071"],"award-info":[{"award-number":["2R01HD036071"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["T32MH073124"],"award-info":[{"award-number":["T32MH073124"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007857","name":"Intellectual and Developmental Disabilities Research Center","doi-asserted-by":"publisher","award":["U54 HD079125"],"award-info":[{"award-number":["U54 HD079125"]}],"id":[{"id":"10.13039\/100007857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2018.00302","type":"journal-article","created":{"date-parts":[[2018,8,22]],"date-time":"2018-08-22T13:41:56Z","timestamp":1534945316000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers"],"prefix":"10.3389","volume":"9","author":[{"given":"Reem R.","family":"Al Olaby","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiu-Tung","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blythe","family":"Durbin-Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Hessl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan M.","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora","family":"Tassone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,8,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1002\/ajmg.a.32211","article-title":"A quantitative assessment of tremor and ataxia in FMR1 premutation carriers using CATSYS.","volume":"146","author":"Aguilar","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"B2","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1136\/jmg.2007.054676","article-title":"Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery.","volume":"45","author":"Allen","year":"2008","journal-title":"Med. Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1007\/s10519-005-2792-4","article-title":"Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.","volume":"35","author":"Allen","year":"2005","journal-title":"Behav. Genet."},{"key":"B4","first-page":"725","article-title":"Standardization of a neuromotor test battery: the CATSYS system.","volume":"21","author":"Despr\u00e9s","year":"2000","journal-title":"Neurotoxicology"},{"key":"B5","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1373\/clinchem.2009.136101","article-title":"A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.","volume":"56","author":"Filipovic-Sadic","year":"2010","journal-title":"Clin. Chem."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1101\/gr.158436.113","article-title":"GC skew at the 5\u2019 and 3\u2019 ends of human genes links R-loop formation to epigenetic regulation and transcription termination.","volume":"23","author":"Ginno","year":"2013","journal-title":"Genome Res."},{"key":"B7","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1037\/0894-4105.22.1.48","article-title":"Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor\/ataxia syndrome.","volume":"22","author":"Grigsby","year":"2008","journal-title":"Neuropsychology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1038\/nbt.3121.ChIP-nexus","article-title":"Fragile X-associated tremor\/ataxia syndrome.","volume":"1338","author":"Hagerman","year":"2015","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"B9","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1038\/nrneurol.2016.82","article-title":"Fragile X - associated tremor \/ ataxia syndrome \u2014 features, mechanisms and management.","volume":"12","author":"Hagerman","year":"2016","journal-title":"Nat. Publ. Group"},{"key":"B10","article-title":"\u201cAntisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor\/ataxia syndrome (FXTAS),\u201d in","author":"Hall","year":"2017","journal-title":"Proceedings of the 3rd International Conference on FMR1 Premutation: Basic Mechanisms and Clinical Involvement"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-31","article-title":"Emerging topics in FXTAS.","volume":"6","author":"Hall","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"B12","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1016\/j.dnarep.2014.03.023","article-title":"The contribution of co-transcriptional RNA: DNA hybrid structures to DNA damage and genome instability.","volume":"19","author":"Hamperl","year":"2014","journal-title":"DNA Repair"},{"key":"B13","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.pestbp.2011.02.012.Investigations","article-title":"Aging in individuals with the FMR1 mutation.","volume":"109","author":"Jacquemont","year":"2004","journal-title":"Am. J. Ment. Retard."},{"key":"B14","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1016\/j.tcb.2015.05.003.R-Loops","article-title":"R-loops breaking bad.","volume":"25","author":"Julie","year":"2015","journal-title":"Trends Cell Biol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1449","DOI":"10.1093\/hmg\/10.14.1449","article-title":"Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.","volume":"10","author":"Kenneson","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1111\/obr.12065.Variation","article-title":"RAN translation from antisense CCG repeats in Fragile X Tremor\/ Ataxia Syndrome.","volume":"80","author":"Krans","year":"2016","journal-title":"Ann. Neurol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"3174","DOI":"10.1093\/hmg\/ddm293","article-title":"An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.","volume":"16","author":"Ladd","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1097\/GIM.0b013e3182064362","article-title":"Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.","volume":"13","author":"Loesch","year":"2011","journal-title":"Genet. Med."},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004294","article-title":"Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.","volume":"10","author":"Loomis","year":"2014","journal-title":"PLoS Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2011\/484713","article-title":"A Quantitative assessment of tremor and ataxia in female FMR1 premutation carriers using CATSYS.","volume":"2011","author":"Narcisa","year":"2011","journal-title":"Curr. Gerontol. Geriatr. Res."},{"key":"B21","year":"2017","journal-title":"R: A Language and Environment for Statistical Computing"},{"key":"B22","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1866-1955-6-23","article-title":"The multiple molecular facets of fragile X-associated tremor\/ataxia syndrome.","volume":"6","author":"Sellier","year":"2014","journal-title":"J. Neurodev.Disord."},{"key":"B23","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1261\/rna.280807","article-title":"Elevated FMR1 mRNA in premutation carriers is due to increased transcription.","volume":"13","author":"Tassone","year":"2007","journal-title":"RNA"},{"key":"B24","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1086\/302720","article-title":"Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.","volume":"66","author":"Tassone","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"B25","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-319-33898-9","author":"Tassone","year":"2016","journal-title":"FXTAS, FXPOI, and Other Premutation Disorders"},{"key":"B26","doi-asserted-by":"publisher","first-page":"43","DOI":"10.2353\/jmoldx.2008.070073","article-title":"A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.","volume":"10","author":"Tassone","year":"2008","journal-title":"J. Mol. Diagn."},{"key":"B27","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.neuron.2013.03.026","article-title":"Article CGG repeat-associated translation mediates neurodegeneration in Fragile X Tremor Ataxia Syndrome.","volume":"78","author":"Todd","year":"2013","journal-title":"Neuron"},{"key":"B28","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1016\/j.bbagrm.2017.08.007","article-title":"Altered expression of the FMR1 splicing variants landscape in premutation carriers.","volume":"1860","author":"Tseng","year":"2017","journal-title":"Biochim. Biophys. Acta"}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00302\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,8,22]],"date-time":"2018-08-22T13:41:58Z","timestamp":1534945318000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2018.00302\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,22]]},"references-count":28,"alternative-id":["10.3389\/fgene.2018.00302"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2018.00302","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,22]]},"article-number":"302"}}